Canonical Allele Identifier: CA276415384
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3061293
ClinVar RCV Id: RCV003982805
dbSNP Id: rs267607269
MyVariant Identifiers: chr16:g.223514C>G (hg19) chr16:g.173515C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173515C>G , CM000678.2:g.173515C>G GRCh38
NC_000016.9:g.223514C>G , CM000678.1:g.223514C>G GRCh37
NC_000016.8:g.163514C>G NCBI36
NG_000006.1:g.34378C>G
NG_059186.1:g.1865C>G
NG_059271.1:g.5669C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.344C>G MANE Select ENSP00000251595.6:p.Pro115Arg
ENST00000251595.10:c.344C>G ENSP00000251595.6:p.Pro115Arg
ENST00000397806.1:c.248C>G ENSP00000380908.1:p.Pro83Arg
ENST00000482565.1:n.480C>G
NM_000517.4:c.344C>G NP_000508.1:p.Pro115Arg
NM_000517.6:c.344C>G MANE Select NP_000508.1:p.Pro115Arg
Search 100 bp 5'
Search 100 bp 3'